ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)

dbSNP: rs2065911287
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234943 SCV001407604 pathogenic Bardet-Biedl syndrome 2023-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val374Phefs*37) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 961273). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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